Varaico: Literature-Extracted Genetic Variants

Gene:ABCA7
Variant:p.N718T
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ABCA7

NM_019112.4:p.N718T

Associated Papers

Bridging pleiotropic mechanisms in leprosy type-1 reactions and neurodegenerative diseases.

Fava VM et al.

Scientific Reports, 2025

41430073 (PubMed )
Supplement: 41598_2025_30734_MOESM2_ESM.xlsx › Variants

Genetic analysis and prenatal diagnosis of short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants of DYNC2H1 gene in four Chinese families.

Fang Y et al.

Frontiers in Genetics, 2023

37007936 (PubMed )
Supplement: Table1.XLS › Sheet

PSEN2 Thr421Met Mutation in a Patient with Early Onset Alzheimer's Disease.

Yang Y et al.

International Journal of Molecular Sciences, 2022

36362122 (PubMed )
Supplement: ijms-23-13331-s001.zip › ijms-1932674-supplementary.pdf

Genetics of Alzheimer Disease.

Jayadev S

Continuum (minneapolis, Minn.), 2022

Association Between Common Variants of APOE, ABCA7, A2M, BACE1, and Cerebrospinal Fluid Biomarkers in Alzheimer's Disease: Data from the PUMCH Dementia Cohort.

Dong L et al.

Journal of Alzheimer's Disease : Jad, 2022

34958020 (PubMed )
Supplement: jad-85-jad215067-s001.pdf

ABCA7, a Genetic Risk Factor Associated with Alzheimer's Disease Risk in African Americans.

Stepler KE et al.

Journal of Alzheimer's Disease : Jad, 2022

Exome sequencing revealed PDE11A as a novel candidate gene for early-onset Alzheimer's disease.

Qin W et al.

Human Molecular Genetics, 2021

33835157 (PubMed )
Supplement: supplementary_tables_ddab090.xlsx › Supplementary_Table_1

Pathogenic PSEN1 Thr119Ile Mutation in Two Korean Patients with Early-Onset Alzheimer's Disease.

Bagyinszky E et al.

Diagnostics (basel, Switzerland), 2020

Investigating APOE, APP-Aβ metabolism genes and Alzheimer's disease GWAS hits in brain small vessel ischemic disease.

Blumenau S et al.

Scientific Reports, 2020

32345996 (PubMed )
Supplement: 41598_2020_63183_MOESM5_ESM.xlsx › S2

Analysis of 50 Neurodegenerative Genes in Clinically Diagnosed Early-Onset Alzheimer's Disease.

Giau VV et al.

International Journal of Molecular Sciences, 2019

30917570 (PubMed )
Supplement: ijms-20-01514-s001.pdf

ABCA7 and Pathogenic Pathways of Alzheimer's Disease.

Aikawa T et al.

Brain Sciences, 2018

Deleterious ABCA7 mutations and transcript rescue mechanisms in early onset Alzheimer's disease.

De Roeck A et al.

Acta Neuropathologica, 2017

28447221 (PubMed )
Supplement: 401_2017_1714_MOESM1_ESM.pdf

African American exome sequencing identifies potential risk variants at Alzheimer disease loci.

N'Songo A et al.

Neurology. Genetics, 2017

ABCA7 loss-of-function variants, expression, and neurologic disease risk.

Allen M et al.

Neurology. Genetics, 2017

ABCA7 p.G215S as potential protective factor for Alzheimer's disease.

Sassi C et al.

Neurobiology of Aging, 2016

Identification and characterization of a defective CYP3A4 genotype in a kidney transplant patient with severely diminished tacrolimus clearance.

Werk AN et al.

Clinical Pharmacology and Therapeutics, 2014

Japanese single nucleotide polymorphism database for 267 possible drug-related genes.

Iida A et al.

Cancer Science, 2006

Homozygosity for the 168His variant of the minor histocompatibility antigen HA-1 is associated with reduced risk of primary Sjögren's syndrome.

Harangi M et al.

European Journal of Immunology, 2005

[SNP collection, pharmacogenomics, and the future of drug therapy].

Iida A et al.

Gan to Kagaku Ryoho. Cancer & Chemotherapy, 2002

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."